Linked Data
dbSNP Id:
rs1428531524
gnomAD v2:
1-65298925-A-ATATT
gnomAD v3:
1-64833242-A-ATATT
gnomAD v4:
1-64833242-A-ATATT
MyVariant Identifiers:
chr1:g.65298925_65298926insTATT (hg19)
chr1:g.64833242_64833243insTATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833248_64833251dup , CM000663.2:g.64833248_64833251dup | GRCh38 |
| NC_000001.10:g.65298931_65298934dup , CM000663.1:g.65298931_65298934dup | GRCh37 |
| NC_000001.9:g.65071519_65071522dup | NCBI36 |
| NG_023402.1:g.138259_138262dup | |
| NG_023402.2:g.239501_239504dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465376.7:n.3121_3124dup (JAK1) | ||
| ENST00000671746.2:c.*4689_*4692dup (JAK1) | ENSP00000500065.1:n.*4689_*4692dup | |
| ENST00000671929.2:c.*1316_*1319dup (JAK1) | ENSP00000500485.1:n.*1316_*1319dup | |
| ENST00000671954.2:c.*1316_*1319dup (JAK1) | ENSP00000500841.1:n.*1316_*1319dup | |
| ENST00000672179.2:c.*1316_*1319dup (JAK1) | ENSP00000500296.1:n.*1316_*1319dup | |
| ENST00000672247.2:c.*1316_*1319dup (JAK1) | ENSP00000499884.1:n.*1316_*1319dup | |
| ENST00000672434.2:c.*1316_*1319dup (JAK1) | ENSP00000499900.1:n.*1316_*1319dup | |
| ENST00000672574.2:c.*1316_*1319dup (JAK1) | ENSP00000500714.2:n.*1316_*1319dup | |
| ENST00000672751.2:c.*1316_*1319dup (JAK1) | ENSP00000500745.2:n.*1316_*1319dup | |
| ENST00000673246.2:c.*1316_*1319dup (JAK1) | ENSP00000499942.2:n.*1316_*1319dup | |
| ENST00000673314.2:n.6080_6083dup (JAK1) | ||
| ENST00000673502.2:n.6240_6243dup (JAK1) | ||
| ENST00000699259.1:c.*1316_*1319dup (JAK1) | ENSP00000514240.1:n.*1316_*1319dup | |
| ENST00000699260.1:c.*1316_*1319dup (JAK1) | ENSP00000514241.1:n.*1316_*1319dup | |
| ENST00000699261.1:c.*2155_*2158dup (JAK1) | ENSP00000514242.1:n.*2155_*2158dup | |
| ENST00000699310.1:c.*1316_*1319dup (JAK1) | ENSP00000514289.1:n.*1316_*1319dup | |
| ENST00000699311.1:c.*3441_*3444dup (JAK1) | ENSP00000514290.1:n.*3441_*3444dup | |
| ENST00000699312.1:c.*1316_*1319dup (JAK1) | ENSP00000514291.1:n.*1316_*1319dup | |
| ENST00000699313.1:c.*3290_*3293dup (JAK1) | ENSP00000514292.1:n.*3290_*3293dup | |
| ENST00000342505.5:c.*1316_*1319dup (JAK1) MANE Select | ENSP00000343204.4:n.*1316_*1319dup | |
| ENST00000342505.4:c.*1316_*1319dup (JAK1) | ENSP00000343204.4:n.*1316_*1319dup | |
| NM_002227.2:c.*1316_*1319dup (JAK1) | NP_002218.2:n.*1316_*1319dup | |
| XM_005270841.1:c.*1316_*1319dup (JAK1) | XP_005270898.1:n.*1316_*1319dup | |
| XM_006710624.1:c.*1316_*1319dup (JAK1) | XP_006710687.1:n.*1316_*1319dup | |
| XM_011541395.1:c.*1316_*1319dup (JAK1) | XP_011539697.1:n.*1316_*1319dup | |
| NM_001320923.1:c.*1316_*1319dup (JAK1) | NP_001307852.1:n.*1316_*1319dup | |
| NM_001321852.1:c.*1316_*1319dup (JAK1) | NP_001308781.1:n.*1316_*1319dup | |
| NM_001321853.1:c.*1316_*1319dup (JAK1) | NP_001308782.1:n.*1316_*1319dup | |
| NM_001321854.1:c.*1316_*1319dup (JAK1) | NP_001308783.1:n.*1316_*1319dup | |
| NM_001321855.1:c.*1316_*1319dup (JAK1) | NP_001308784.1:n.*1316_*1319dup | |
| NM_001321856.1:c.*1316_*1319dup (JAK1) | NP_001308785.1:n.*1316_*1319dup | |
| NM_001321857.1:c.*1316_*1319dup (JAK1) | NP_001308786.1:n.*1316_*1319dup | |
| NM_002227.3:c.*1316_*1319dup (JAK1) | NP_002218.2:n.*1316_*1319dup | |
| XR_946693.3:n.4682_4685dup (RAVER2) | ||
| NM_002227.4:c.*1316_*1319dup (JAK1) MANE Select | NP_002218.2:n.*1316_*1319dup | |
| NM_001321852.2:c.*1316_*1319dup (JAK1) | NP_001308781.1:n.*1316_*1319dup | |
| NM_001321853.2:c.*1316_*1319dup (JAK1) | NP_001308782.1:n.*1316_*1319dup | |
| NM_001321854.2:c.*1316_*1319dup (JAK1) | NP_001308783.1:n.*1316_*1319dup | |
| NM_001321855.2:c.*1316_*1319dup (JAK1) | NP_001308784.1:n.*1316_*1319dup | |
| NM_001321857.2:c.*1316_*1319dup (JAK1) | NP_001308786.1:n.*1316_*1319dup | |
| NM_001320923.2:c.*1316_*1319dup (JAK1) | NP_001307852.1:n.*1316_*1319dup | |
| NM_001321856.2:c.*1316_*1319dup (JAK1) | NP_001308785.1:n.*1316_*1319dup |